Publications by authors named "Robert C Bucelli"

44Publications

Phase 1-2 Trial of Antisense Oligonucleotide Tofersen for ALS.

N Engl J Med 2020 07;383(2):109-119

From the Washington University School of Medicine, St. Louis (T.M., R.C.B., A.P.); the Healey Center for ALS, Massachusetts General Hospital, Harvard Medical School, Boston (M.C., N.A.), and Biogen, Cambridge (A.S., H.R., D.G., H.H., A.M., I.N., I.C., L.F., S.F., T.A.F.) - both in Massachusetts; the Sheffield Institute for Translational Neuroscience, University of Sheffield, and NIHR Sheffield Biomedical Research Centre and Clinical Research Facility, University of Sheffield and Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield (P.J.S., C.J.M.), and Biogen, Maidenhead (M.M.) - both in the United Kingdom; the Department of Clinical Science, Neurosciences, Umeå University, Umea, Sweden (P.M.A.); Montreal Neurological Institute and Hospital, Montreal (A.G.), and Sunnybrook Research Institute, Toronto (L.Z.); Emory University, Atlanta (J.G.); Barrow Neurological Institute, Phoenix, AZ (S.L.); the University of Ulm, Ulm, Germany (A.L.L.); Johns Hopkins University School of Medicine, Baltimore (N.J.M.); the University of California San Diego, La Jolla (J.R.), and Ionis Pharmaceuticals, Carlsbad (C.F.B., R.L.) - both in California; Paris ALS Centre, Hôpital de la Salpêtrière, Paris (F.S.); the University of Tennessee Medical Center, Knoxville (R.T.); and KU Leuven, VIB Center for Brain and Disease Research, University Hospitals Leuven, Leuven, Belgium (P.V.D.).

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http://dx.doi.org/10.1056/NEJMoa2003715DOI Listing
July 2020

An Atypical and Multifactorial Acute Immune Polyradiculopathy: A Case Report.

Neurohospitalist 2020 Apr 24;10(2):118-120. Epub 2019 Jul 24.

Department of Neurology, School of Medicine, Washington University in St Louis, St Louis, MO, USA.

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http://dx.doi.org/10.1177/1941874419865640DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7191666PMC
April 2020

Single-cell RNA-seq analysis of human CSF microglia and myeloid cells in neuroinflammation.

Neurol Neuroimmunol Neuroinflamm 2020 07 5;7(4). Epub 2020 May 5.

From the Department of Pathology and Immunology (E.E., I.S., K.Z., G.F.W., M.N.A., B.T.E.) and Department of Neurology (C.C., R.C.B., G.F.W., A.H.C.), Washington University School of Medicine, St. Louis, MO; and Computer Technologies Department (K.Z.), ITMO University, St. Petersburg, Russia.

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http://dx.doi.org/10.1212/NXI.0000000000000732DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217663PMC
July 2020

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms.

Neuron 2020 05 12;106(4):589-606.e6. Epub 2020 Mar 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2020.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7289150PMC
May 2020

An Elderly Man with Dementia.

Clin Chem 2020 03;66(3):415-420

Department of Neurology, School of Medicine, Washington University in St. Louis, Saint Louis, MO.

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http://dx.doi.org/10.1093/clinchem/hvz002DOI Listing
March 2020

Nerve transfer as a novel treatment for West Nile virus-associated acute flaccid paralysis.

J Neurol Sci 2019 Dec 15;407:116502. Epub 2019 Oct 15.

Department of Neurology, Washington University School of Medicine, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2019.116502DOI Listing
December 2019

Primary Spinal Cord Glioblastoma Multiforme in the Young and Old.

Neurohospitalist 2019 Oct 28;9(4):243-244. Epub 2019 Feb 28.

Department of Neurology, Washington University School of Medicine, St Louis, MO, USA.

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http://dx.doi.org/10.1177/1941874419832443DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6739674PMC
October 2019

Rapid Recovery With Plasma Exchange in Acute Motor Axonal Neuropathy With Reversible Conduction Failure.

J Clin Neuromuscul Dis 2019 Sep;21(1):35-41

Department of Neurology, Washington University School of Medicine in St. Louis, St. Louis, MO.

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http://dx.doi.org/10.1097/CND.0000000000000256DOI Listing
September 2019

A mutation in Site-1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema.

Mol Genet Genomic Med 2019 07 8;7(7):e00733. Epub 2019 May 8.

John T. Milliken Department of Medicine, Division of Geriatrics and Nutritional Sciences, Washington University School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1002/mgg3.733DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625134PMC
July 2019

Sleep disturbances are common in patients with autoimmune encephalitis.

J Neurol 2019 Apr 11;266(4):1007-1015. Epub 2019 Feb 11.

Department of Neurology, Washington University School of Medicine, Saint Louis, MO, USA.

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http://dx.doi.org/10.1007/s00415-019-09230-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6421090PMC
April 2019

Patient characteristics and outcome associations in AMPA receptor encephalitis.

J Neurol 2019 Feb 17;266(2):450-460. Epub 2018 Dec 17.

Department of Neurology, Washington University in St. Louis, Saint Louis, MO, USA.

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http://dx.doi.org/10.1007/s00415-018-9153-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367044PMC
February 2019

Hereditary Motor Neuropathies and Amyotrophic Lateral Sclerosis: a Molecular and Clinical Update.

Curr Neurol Neurosci Rep 2018 10 17;18(12):93. Epub 2018 Oct 17.

Department of Neurology, Division of Neuromuscular Medicine, Washington University in St. Louis, 660 S Euclid Ave, Box 8111, St. Louis, MO, 63110, USA.

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http://link.springer.com/10.1007/s11910-018-0901-z
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http://dx.doi.org/10.1007/s11910-018-0901-zDOI Listing
October 2018

CANOMAD and other chronic ataxic neuropathies with disialosyl antibodies (CANDA).

J Neurol 2018 Jun 9;265(6):1402-1409. Epub 2018 Apr 9.

Division of Neuromuscular Medicine, Department of Neurology, Washington University in St. Louis, 660 S Euclid Ave, Box 8111, St. Louis, MO, 63110, USA.

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http://link.springer.com/10.1007/s00415-018-8853-4
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http://dx.doi.org/10.1007/s00415-018-8853-4DOI Listing
June 2018

Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome Presenting With Neurotrophic Keratopathy.

J Neuroophthalmol 2018 09;38(3):342-343

Department of Ophthalmology and Visual Sciences (GLP, NHK, TPM, GPVS), Washington University in St. Louis, St. Louis, Missouri; and Department of Neurology (RCB, GPVS), Washington University in St. Louis, St. Louis, Missouri.

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http://Insights.ovid.com/crossref?an=00041327-201809000-0001
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http://dx.doi.org/10.1097/WNO.0000000000000638DOI Listing
September 2018

Immune myopathies with perimysial pathology: Clinical and laboratory features.

Neurol Neuroimmunol Neuroinflamm 2018 Mar 17;5(2):e434. Epub 2018 Jan 17.

Department of Neurology, Washington University School of Medicine, St. Louis, MO.

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http://dx.doi.org/10.1212/NXI.0000000000000434DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5773856PMC
March 2018

Nerve ultrasound reliability of upper limbs: Effects of examiner training.

Muscle Nerve 2018 02 12;57(2):189-192. Epub 2017 Nov 12.

Department of Neurology, Neuromuscular Division, Washington University in St. Louis, 660 S Euclid Ave, Box 8111, St. Louis, Missouri, 63110, USA.

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http://dx.doi.org/10.1002/mus.25980DOI Listing
February 2018

Nodular Leptomeningeal Enhancement in Neurosarcoidosis: Before and After Treatment.

Neurohospitalist 2017 Oct 18;7(4):NP1-NP2. Epub 2016 Dec 18.

Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.

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http://dx.doi.org/10.1177/1941874416684457DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5613864PMC
October 2017

Teaching Neuro: Cerebral amyloid angiopathy-related inflammation presenting with isolated leptomeningitis.

Neurology 2017 08;89(6):e66-e67

From the Department of Neurology (P.K., R.C.B., A.H.K., G.S.D.), Division of Neuropathology, Department of Pathology and Immunology (C.J.F., J.C.C.), and Department of Neurological Surgery (A.H.K.), Washington University School of Medicine; and Knight Alzheimer Disease Research Center (G.S.D.), St. Louis, MO.

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http://dx.doi.org/10.1212/WNL.0000000000004218DOI Listing
August 2017

Serial diaphragm ultrasound studies in neuralgic amyotrophy with bilateral phrenic neuropathies.

Muscle Nerve 2017 12 8;56(6):E168-E170. Epub 2017 Aug 8.

Department of Neurology, Neuromuscular Division, Washington University in St. Louis, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1002/mus.25750DOI Listing
December 2017

Commentary.

Clin Chem 2017 06;63(6):1073

Washington University, St. Louis, MO.

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http://dx.doi.org/10.1373/clinchem.2017.272252DOI Listing
June 2017

A Middle-aged Man With Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis.

JAMA Neurol 2017 06;74(6):733-736

Department of Neurology, Washington University in St Louis, St Louis, Missouri.

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http://dx.doi.org/10.1001/jamaneurol.2017.0055DOI Listing
June 2017

Ziprasidone as a Potential Abortive Therapy for Status Migrainosus.

Neurohospitalist 2016 Oct 2;6(4):151-156. Epub 2016 Jun 2.

Department of Neurology, Washington University in St Louis, St Louis, MO, USA.

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http://dx.doi.org/10.1177/1941874416651118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5029557PMC
October 2016

Sleep Pathology in Creutzfeldt-Jakob Disease.

J Clin Sleep Med 2016 07 15;12(7):1033-9. Epub 2016 Jul 15.

Department of Neurology, Washington University School of Medicine, Saint Louis, MO.

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http://dx.doi.org/10.5664/jcsm.5944DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4918986PMC
July 2016

Neuro-Sweet disease: A case of recurrent encephalitis and febrile neutrophilic dermatosis.

Neurol Clin Pract 2016 Jun;6(3):e20-e23

Departments of Neurology (KY, RCB), Dermatology (ACM), and Pathology (AS), Washington University School of Medicine, MO.

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http://dx.doi.org/10.1212/CPJ.0000000000000210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5727716PMC
June 2016

A Young Man With Progressive Vision and Hearing Loss.

JAMA Neurol 2016 Jul;73(7):880-3

Department of Ophthalmology, Washington University in St Louis, St Louis, Missouri.

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http://dx.doi.org/10.1001/jamaneurol.2016.1336DOI Listing
July 2016

Chronic Progressive External Ophthalmoplegia in the Absence of Ptosis.

J Neuroophthalmol 2016 09;36(3):270-4

Department of Neurology (RB), Washington University School of Medicine, St. Louis, Missouri; and Departments of Ophthalmology and Visual Neurosciences (ML, CMM), Neurology (ML), and Neurosurgery (ML), University of Minnesota, Minneapolis, Minnesota.

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https://insights.ovid.com/crossref?an=00041327-201609000-000
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http://dx.doi.org/10.1097/WNO.0000000000000384DOI Listing
September 2016

Neurologic manifestations of intravascular large B-cell lymphoma.

Neurol Clin Pract 2016 Feb;6(1):55-60

Department of Neurology (PT-F, RCB, SGK), Divisions of General Neurology (PT-F/RCB), Neuromuscular Disorders (RCB), Cerebrovascular Diseases (SGK), and Neurological Critical Care (SGK), Division of Oncology (AR), and Department of Pathology and Immunology, Division of Neuropathology (PJC), Washington University School of Medicine, St. Louis, MO.

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http://cp.neurology.org/lookup/doi/10.1212/CPJ.0000000000000
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http://dx.doi.org/10.1212/CPJ.0000000000000185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4753834PMC
February 2016

A Young Woman With Blurred Vision and Distal Paresthesias.

JAMA Neurol 2015 Dec;72(12):1519-23

Department of Neurology, Washington University in St Louis, St Louis, Missouri.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamaneurol.2015.2390DOI Listing
December 2015

Ocular Neuromyotonia Associated with Chronic Inflammatory Demyelinating Polyneuropathy.

Neuroophthalmology 2015 Oct 24;39(5):240-242. Epub 2015 Aug 24.

Department of Ophthalmology and Visual Sciences, Washington University in St. Louis , St. Louis, Missouri, USA.

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http://dx.doi.org/10.3109/01658107.2015.1059464DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5123132PMC
October 2015

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles.

Neurology 2015 Aug 24;85(8):665-74. Epub 2015 Jul 24.

From the Department of Neurology (R.C.B., K.A., A.P., S.K.P., M.B.H., C.C.W.), Washington University School of Medicine, Saint Louis, MO; Dent Neurologic Institute (L.R.), Amherst, NY; Department of Neurogenetics (C.M.S.), Kolling Institute of Medical Research, Royal North Shore Hospital and University of Sydney, St Leonard's, New South Wales, Australia; Folkhalsan Institute of Genetics and Department of Medical Genetics (A.E., P.H., B.U.), Haartman Institute, University of Helsinki, Finland; Neuromuscular Research Center (B.U.), Tampere University Hospital and University of Tampere, Finland; and Department of Neurology (B.U.), Vaasa Central Hospital, Vaasa, Finland.

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http://dx.doi.org/10.1212/WNL.0000000000001864DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4553032PMC
August 2015

Nerve ultrasound identifies abnormalities in the posterior interosseous nerve in patients with proximal radial neuropathies.

Muscle Nerve 2016 Mar 29;53(3):379-83. Epub 2015 Dec 29.

Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, Box 8111, St. Louis, Missouri, 63110, USA.

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http://dx.doi.org/10.1002/mus.24778DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5925758PMC
March 2016

Rhabdomyolysis-Associated Mutations in Human LPIN1 Lead to Loss of Phosphatidic Acid Phosphohydrolase Activity.

JIMD Rep 2015 13;23:113-22. Epub 2015 May 13.

Department of Medicine, Division of Geriatrics and Nutritional Sciences, Washington University School of Medicine, 660 S. Euclid Ave, Box 8031, St. Louis, MO, 63110, USA.

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http://dx.doi.org/10.1007/8904_2015_440DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4484911PMC
June 2015

Criteria for reducing unnecessary testing for herpes simplex virus, varicella-zoster virus, cytomegalovirus, and enterovirus in cerebrospinal fluid samples from adults.

J Clin Microbiol 2015 Mar 7;53(3):887-95. Epub 2015 Jan 7.

Department of Pathology and Immunology, Washington University School of Medicine in St. Louis, St. Louis, Missouri, USA Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, Missouri, USA

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http://dx.doi.org/10.1128/JCM.03161-14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390640PMC
March 2015

Atypical CSF findings in West Nile neuroinvasive disease: A diagnostic and therapeutic conundrum.

Neurol Neuroimmunol Neuroinflamm 2014 Jun 22;1(1):e8. Epub 2014 May 22.

Department of Neurology, Washington University School of Medicine, St. Louis, MO.

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http://dx.doi.org/10.1212/NXI.0000000000000008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4202667PMC
June 2014

Diagnosis and evaluation of a patient with rapidly progressive dementia.

Mo Med 2013 Sep-Oct;110(5):422-8

Department of Neurology, Washington University School of Medicine, St. Louis, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4217278PMC
December 2013

Statins decrease expression of the proinflammatory neuropeptides calcitonin gene-related peptide and substance P in sensory neurons.

J Pharmacol Exp Ther 2008 Mar 13;324(3):1172-80. Epub 2007 Dec 13.

Oregon Health Science University, CROET/L606, 3181 SW Sam Jackson Park Road, Portland, OR 97239, USA.

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http://dx.doi.org/10.1124/jpet.107.132795DOI Listing
March 2008

Cellular mechanisms of serotonin 5-HT2A receptor-mediated cGMP formation: the essential role of glutamate.

Brain Res 2004 Apr;1003(1-2):168-75

Department of Pharmacology and Toxicology, School of Medicine and Biomedical Sciences, 102 Farber Hall, State University of New York at Buffalo, Buffalo, NY 14214-3000, USA.

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http://dx.doi.org/10.1016/j.brainres.2004.01.014DOI Listing
April 2004